Zobrazeno 1 - 10
of 33
pro vyhledávání: '"Karit, Reinson"'
Autor:
Elis Tiivoja, Karit Reinson, Kai Muru, Kristi Rähn, Kristina Muhu, Laura Mauring, Tiina Kahre, Sander Pajusalu, Katrin Õunap
Publikováno v:
JIMD Reports, Vol 63, Iss 6, Pp 604-613 (2022)
Abstract Inherited metabolic disorders (IMD) are a group of hereditary diseases wherein the impairment of a biochemical pathway is intrinsic to the pathophysiology of the disease. Estonia's small population and nationwide digitalised healthcare syste
Externí odkaz:
https://doaj.org/article/7ffb2fbfdf0d44f8a5934aa6a5fb29a8
Autor:
Lot Snijders Blok, Jolijn Verseput, Dmitrijs Rots, Hanka Venselaar, A. Micheil Innes, Connie Stumpel, Katrin Õunap, Karit Reinson, Eleanor G. Seaby, Shane McKee, Barbara Burton, Katherine Kim, Johanna M. van Hagen, Quinten Waisfisz, Pascal Joset, Katharina Steindl, Anita Rauch, Dong Li, Elaine H. Zackai, Sarah E. Sheppard, Beth Keena, Hakon Hakonarson, Andreas Roos, Nicolai Kohlschmidt, Anna Cereda, Maria Iascone, Erika Rebessi, Kristin D. Kernohan, Philippe M. Campeau, Francisca Millan, Jesse A. Taylor, Hanns Lochmüller, Martin R. Higgs, Amalia Goula, Birgitta Bernhard, Danita J. Velasco, Andrew A. Schmanski, Zornitza Stark, Lyndon Gallacher, Lynn Pais, Paul C. Marcogliese, Shinya Yamamoto, Nicholas Raun, Taryn E. Jakub, Jamie M. Kramer, Joery den Hoed, Simon E. Fisher, Han G. Brunner, Tjitske Kleefstra
Publikováno v:
HGG Advances, Vol 4, Iss 1, Pp 100157- (2023)
Summary: WDR5 is a broadly studied, highly conserved key protein involved in a wide array of biological functions. Among these functions, WDR5 is a part of several protein complexes that affect gene regulation via post-translational modification of h
Externí odkaz:
https://doaj.org/article/c93dab48c10f4d9a93b8d87c61542fd8
Autor:
Karit Reinson, Katrin Õunap
Publikováno v:
EMBO Molecular Medicine, Vol 12, Iss 11, Pp 1-3 (2020)
Graphical Abstract K. Õunap and K. Reinson discuss the biochemical and functional characterization of the NDUFC2 pathogenic variants identified in children with Leigh syndrome by R. Taylor and colleagues, in this issue of EMBO Molecular Medicine
Externí odkaz:
https://doaj.org/article/e785d23cf6604153bcb98326a74885dd
Autor:
Sanna Puusepp, Karit Reinson, Sander Pajusalu, André B.P. van Kuilenburg, Doreen Dobritzsch, Jeroen Roelofsen, Werner Stenzel, Katrin Õunap
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 25, Iss , Pp 100677- (2020)
The PRPS1 gene, located on Xq22.3, encodes phosphoribosyl-pyrophosphate synthetase (PRPS), a key enzyme in de novo purine synthesis. Three clinical phenotypes are associated with loss-of-function PRPS1 variants and decreased PRPS activity: Arts syndr
Externí odkaz:
https://doaj.org/article/28a292ea46e94bdc841fc6401ce32712
Autor:
Sanna Puusepp, Karit Reinson, Sander Pajusalu, Ülle Murumets, Eve Õiglane-Shlik, Reet Rein, Inga Talvik, Richard J. Rodenburg, Katrin Õunap
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 15, Iss , Pp 80-89 (2018)
Objective: Reaching a genetic diagnosis of mitochondrial disorders (MDs) is challenging due to their broad phenotypic and genotypic heterogeneity. However, there is growing evidence that the use of whole exome sequencing (WES) for diagnosing patients
Externí odkaz:
https://doaj.org/article/c6819098f45c44c3bfb487313109db89
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 15, Iss , Pp 1-5 (2018)
Vitamin B12 deficiency seems to be more common worldwide than previously thought. However, only a few reports based on data from newborn screening (NBS) programs have drawn attention to that subject. In Estonia, over the past three years, we have dia
Externí odkaz:
https://doaj.org/article/aa8412c245cc43ec9237c0bf2b06e7cb
Autor:
Sébastien Küry, Jinwei Zhang, Thomas Besnard, Alfonso Caro-Llopis, Xue Zeng, Stephanie M. Robert, Sunday S. Josiah, Emre Kiziltug, Anne-Sophie Denommé-Pichon, Benjamin Cogné, Adam J. Kundishora, Le T. Hao, Hong Li, Roger E. Stevenson, Raymond J. Louie, Wallid Deb, Erin Torti, Virginie Vignard, Kirsty McWalter, F. Lucy Raymond, Farrah Rajabi, Emmanuelle Ranza, Detelina Grozeva, Stephanie A. Coury, Xavier Blanc, Elise Brischoux-Boucher, Boris Keren, Katrin Õunap, Karit Reinson, Pilvi Ilves, Ingrid M. Wentzensen, Eileen E. Barr, Solveig Heide Guihard, Perrine Charles, Eleanor G. Seaby, Kristin G. Monaghan, Marlène Rio, Yolande van Bever, Marjon van Slegtenhorst, Wendy K. Chung, Ashley Wilson, Delphine Quinquis, Flora Bréhéret, Kyle Retterer, Pierre Lindenbaum, Emmanuel Scalais, Lindsay Rhodes, Katrien Stouffs, Elaine M. Pereira, Sara M. Berger, Sarah S. Milla, Ankita B. Jaykumar, Melanie H. Cobb, Shreyas Panchagnula, Phan Q. Duy, Marie Vincent, Sandra Mercier, Brigitte Gilbert-Dussardier, Xavier Le Guillou, Séverine Audebert-Bellanger, Sylvie Odent, Sébastien Schmitt, Pierre Boisseau, Dominique Bonneau, Annick Toutain, Estelle Colin, Laurent Pasquier, Richard Redon, Arjan Bouman, Jill. A. Rosenfeld, Michael J. Friez, Helena Pérez-Peña, Syed Raza Akhtar Rizvi, Shozeb Haider, Stylianos E. Antonarakis, Charles E. Schwartz, Francisco Martínez, Stéphane Bézieau, Kristopher T. Kahle, Bertrand Isidor
Publikováno v:
Genetics in Medicine, 24(9), 1941-1951. Lippincott Williams & Wilkins
GENETICS IN MEDICINE
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Genetics in Medicine
Genetics in Medicine, 2022, 24 (9), pp.1941-1951. ⟨10.1016/j.gim.2022.05.009⟩
GENETICS IN MEDICINE
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Genetics in Medicine
Genetics in Medicine, 2022, 24 (9), pp.1941-1951. ⟨10.1016/j.gim.2022.05.009⟩
PURPOSE: WNK3 kinase (PRKWNK3) has been implicated in the development and function of the brain via its regulation of the cation-chloride cotransporters, but the role of WNK3 in human development is unknown. METHOD: We ascertained exome or genome seq
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::711e752a43d1442b0a91b2645fc1747e
https://doi.org/10.1016/j.gim.2022.05.009
https://doi.org/10.1016/j.gim.2022.05.009
Autor:
Kai Muru, Karit Reinson, Kadi Künnapas, Hardo Lilleväli, Zahra Nochi, Signe Mosegaard, Sander Pajusalu, Rikke K. J. Olsen, Katrin Õunap
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 9, Pp n/a-n/a (2019)
Abstract Background Multiple acyl‐CoA dehydrogenase deficiency (MADD), also known as glutaric aciduria type II, is a mitochondrial fatty acid oxidation disorder caused by variants in ETFA, ETFB, and ETFDH. Recently, riboflavin transporter genes and
Externí odkaz:
https://doaj.org/article/037c94e70446405288bdd9eee3164556
Autor:
Hardo Lilleväli, Karit Reinson, Kai Muru, Siret Saarsalu, Kadi Künnapas, Tiina Kahre, Ülle Murumets, Katrin Õunap
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 19, Iss , Pp - (2019)
Blood phenylalanine (Phe) values from the dried blood spots of all Estonian phenylketonuria (PKU) patients have been deposited into a unified electronic laboratory database for eight years, providing an opportunity to assess the adherence of the pati
Externí odkaz:
https://doaj.org/article/aaa26324ac1148c3980ce02a12e447fd
Autor:
Kaisa Teele Oja, Mihkel Ilisson, Karit Reinson, Kai Muru, Tiia Reimand, Hedi Peterson, Dmytro Fishman, Tõnu Esko, Toomas Haller, Jaanika Kronberg, Monica H. Wojcik, Adam Kennedy, Gregory Michelotti, Anne O’Donnell-Luria, Eve Õiglane-Šlik, Sander Pajusalu, Katrin Õunap
Publikováno v:
medRxiv
IntroductionEpilepsy is a common central nervous system disorder characterized by abnormal brain electrical activity. We aimed to compare the metabolic profiles of plasma from patients with epilepsy across different etiologies, seizure frequency, sei
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8217fce3ef36565998e8d5a9579e5dad
https://europepmc.org/articles/PMC10081398/
https://europepmc.org/articles/PMC10081398/
